dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2820155A>T , CM000682.2:g.2820155A>T | GRCh38 |
| NC_000020.10:g.2800801A>T , CM000682.1:g.2800801A>T | GRCh37 |
| NC_000020.9:g.2748801A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361033.1:c.*3142A>T | ENSP00000354312.1:n.*3142A>T | |
| NM_001318207.1:c.*3142A>T | NP_001305136.1:n.*3142A>T |